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| Childhood solid tumours v2.23 | NYNRIN | Arina Puzriakova Classified gene: NYNRIN as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v2.23 | NYNRIN |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. The NYNRIN gene is currently not listed in OMIM or G2P. Mahamdallie et al. 2019 (PMID: 30885698) report 2 families with 3 affected children with Wilms tumour who harboured distinct compound het protein-truncating variants in this gene. To date, there have been no further reports linking NYNRIN with disease and little is known about its functions. Rating Amber as two families have been identified but additional cases/functional evidence are required to validate pathogenicity. |
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| Childhood solid tumours v2.23 | NYNRIN | Arina Puzriakova Gene: nynrin has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v2.22 | NYNRIN |
Zornitza Stark gene: NYNRIN was added gene: NYNRIN was added to Tumour predisposition - childhood onset. Sources: Literature Mode of inheritance for gene: NYNRIN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NYNRIN were set to 30885698 Phenotypes for gene: NYNRIN were set to Wilms tumour Review for gene: NYNRIN was set to AMBER Added comment: 3 individuals with Wilms Tumour reported from two families and bi-allelic truncating variants. One of the affected children had an inguinal hernia and another had epilepsy, hypothyroidism, and intellectual disability. Sources: Literature |
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